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Genomics|December 1, 1987
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic markerG J van Ommen, C Bertelson, H B Ginjaar, et al.Journal of Medical Genetics|November 13, 2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyH Rosas-Vargas, N Bahi-Buisson, C Philippe, et al.Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.Neuron|July 10, 1999
Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neuronsF Francis, A Koulakoff, D Boucher, et al.Genomics|April 11, 2000
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemiaN McDonell, J Ramser, F Francis, et al.Nature Genetics|June 10, 1998
Mutations in GDI1 are responsible for X-linked non-specific mental retardationP D'Adamo, A Menegon, C Lo Nigro, et al.Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.Pageof 14